ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10277C>G (p.Thr3426Arg)

gnomAD frequency: 0.00001  dbSNP: rs143066121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755497 SCV002005014 uncertain significance not provided 2021-04-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV005038310 SCV005672190 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-03-12 criteria provided, single submitter clinical testing

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